Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly (MDMHB)

Alias:
Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly
Mdmhb
Dysplasia, Metaphyseal, with Maxillary Hypoplasia and Brachydactyly
Metaphyseal Dysplasia-Maxillary Hypoplasia-Brachydactyly Syndrome
Metaphyseal Dysplasia-Maxillary Hypoplasia-Brachydacty Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly, also known as metaphyseal dysplasia maxillary hypoplasia brachydactyly, is related to metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome and brachydactyly. An important gene associated with Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly is RUNX2 (RUNX Family Transcription Factor 2). Affiliated tissues include bone and cortex, and related phenotypes are short stature and short 5th metacarpal
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
--
1
20
4

Medical Symptom

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Description
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Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
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References Literature

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